| MITF-gerelateerd melanoom en niercelcarcinoom-predispositiesyndroom (aandoening) | | MITF-gerelateerd melanoom en niercelcarcinoom-predispositiesyndroom | | 'microphthalmia-associated transcription factor'-gerelateerd melanoom en niercelcarcinoom-predispositiesyndroom
'melanogenesis associated transcription factor'-gerelateerd melanoom en niercelcarcinoom-predispositiesyndroom
'melanocyte inducing transcription factor'-gerelateerd melanoom en niercelcarcinoom-predispositiesyndroom
| | MITF-related melanoma and renal cell carcinoma predisposition syndrome | | Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome
MITF (melanogenesis associated transcription factor) related melanoma and renal cell carcinoma predisposition syndrome
| | MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer. |
| | Id | 770896003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Z80.9 | | Term | Familie-anamnese met maligne neoplasma, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 293822 |
| SNOMED CT to ICD-10 extended map | | Target | C43.9 | | Rule | TRUE | | Advice | ALWAYS C43.9 | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE | | Correlation | SNOMED CT source code to target map code correlation not specified |
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